Canonical Allele Identifier: CA1737344011

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479559_117479562delinsCGAA , CM000669.2:g.117479559_117479562delinsCGAA	GRCh38
NC_000007.13:g.117119613_117119616delinsCGAA , CM000669.1:g.117119613_117119616delinsCGAA	GRCh37
NC_000007.12:g.116906849_116906852delinsCGAA	NCBI36
NG_016465.4:g.18776_18779delinsCGAA , LRG_663:g.18776_18779delinsCGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-326_-323delinsCGAA	ENSP00000417012.1:n.-326_-323delinsCGAA
ENST00000673785.1:c.-406+13728_-406+13731delinsCGAA	ENSP00000501235.1:n.-406+13728_-406+13731delinsCGAA
ENST00000446805.1:c.-326_-323delinsCGAA	ENSP00000417012.1:n.-326_-323delinsCGAA
ENST00000546407.1:n.166+3751_166+3754delinsCGAA
XM_011515751.1:c.143+214_143+217delinsCGAA	XP_011514053.1:n.143+214_143+217delinsCGAA
XM_011515752.1:c.143+214_143+217delinsCGAA	XP_011514054.1:n.143+214_143+217delinsCGAA
XM_011515753.1:c.-326_-323delinsCGAA	XP_011514055.1:n.-326_-323delinsCGAA
XM_011515754.1:c.-654_-651delinsCGAA	XP_011514056.1:n.-654_-651delinsCGAA